macular corneal dystrophy

macular corneal dystrophy

macular corneal dystrophy

An autosomal recessive condition (OMIM:217800) characterised by progressive minute, grey, punctate corneal opacities of early onset, usually between age 5 and 9. Corneal sensitivity is usually reduced, accompanied by pain, photophobia, foreign body sensation, and recurrent erosions.

Subtypes • MCD type I—Virtual absence of keratan sulfate in the serum and cornea, as determined by KS-specific antibodies, due to a homozygous missense mutation.• MCD type II—Normal KS-antibody response in cornea and serum, due to a large deletion and replacement in the upstream region of CHST6.

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